A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051705



Internal ID19140924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31846060..31915943hg38UCSC Ensembl
Innerchr12:31998994..32068877hg19UCSC Ensembl
Innerchr12:31890261..31960144hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3869884
hg1969884
hg1869884
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1426n100
Supporting Variantsnssv3506545, nssv3506390, nssv3510663
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051705
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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